A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2757725



Internal ID9633184
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16437838..17157486hg38UCSC Ensembl
Innerchr1:16764333..17483981hg19UCSC Ensembl
Innerchr1:16636920..17356568hg18UCSC Ensembl
Innerchr1:16509639..17229287hg17UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38719649
hg19719649
hg18719649
hg17719649
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2758925
Supporting Variantsessv1152, essv15729, essv17268, essv5201, essv15397, essv20254, essv4715, essv11626, essv9084, essv19098, essv12804, essv3203, essv18131, essv1164, essv24736, essv16669, essv17163, essv4752, essv6017, essv8651, essv23488, essv8109, essv3706, essv22395, essv18376, essv20425, essv9749, essv529, essv12558, essv7828, essv14729, essv6329, essv20074, essv10234, essv12264, essv2656, essv16393, essv5730, essv9388, essv9441, essv447, essv5156, essv21290, essv24418, essv20210, essv23121, essv11570, essv11038, essv22908, essv9940, essv24578, essv14604, essv11274, essv6578, essv15527, essv2981, essv15858, essv15101, essv16398, essv16000, essv17478, essv7338, essv14574, essv7145, essv2595, essv1741, essv5796, essv4243, essv404, essv20767, essv21756, essv4125, essv21315, essv2334, essv21549, essv5576, essv1374, essv16876, essv14389, essv14148, essv15232, essv22983, essv3387, essv11946, essv2165, essv1499, essv23350, essv3462, essv9681, essv16154, essv10442, essv10302, essv22522, essv11094, essv17956, essv7560, essv4977, essv19900, essv4644, essv1465, essv6723, essv24798, essv9815, essv6909
SamplesNA18503, NA19142, NA18621, NA18964, NA18863, NA19152, NA12249, NA18605, NA12750, NA18594, NA18951, NA18952, NA19173, NA12875, NA18501, NA19093, NA19120, NA18570, NA19223, NA18545, NA18603, NA12707, NA12813, NA19203, NA18529, NA18947, NA18608, NA18507, NA10855, NA18505, NA19208, NA18506, NA19143, NA19140, NA11882, NA19211, NA18998, NA18967, NA19239, NA18992, NA07034, NA18566, NA18622, NA18960, NA07357, NA12762, NA12873, NA18990, NA07048, NA18609, NA18547, NA18637, NA18593, NA19100, NA12144, NA12239, NA18620, NA18515, NA19129, NA19094, NA19206, NA18502, NA18558, NA19098, NA19154, NA19139, NA18564, NA18997, NA19131, NA19159, NA18974, NA18945, NA18940, NA19145, NA11832, NA12891, NA12146, NA07055, NA10860, NA19101, NA18971, NA19132, NA10830, NA12878, NA11992, NA12003, NA18944, NA19205, NA11993, NA18571, NA18611, NA11829, NA19171, NA18853, NA19204, NA18981, NA18913, NA12760, NA18555, NA19007, NA19202, NA18980
Known GenesATP13A2, CROCC, CROCCP2, CROCCP3, ESPNP, LOC729574, MFAP2, MIR3675, MST1L, MST1P2, NBPF1, NECAP2, PADI2, SDHB
MethodBAC aCGH
AnalysisArray images were acquired using an Agilent laser scanner (Agilent Technologies, UK). Fluorescence intensities and log2 ratio values were extracted using Bluefuse software (Bluegnome Ltd).
PlatformAgilent
Comments
ReferenceRedon_et_al_2006
Pubmed ID17122850
Accession Number(s)esv2757725
Frequency
Sample Size270
Observed Gain74
Observed Loss30
Observed Complex0
Frequencyn/a


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