A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2759547



Internal ID9635006
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:100757867..101105965hg38UCSC Ensembl
Innerchr7:100355490..100749246hg19UCSC Ensembl
Innerchr7:100193426..100535966hg18UCSC Ensembl
Innerchr7:100000141..100342681hg17UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38348099
hg19393757
hg18342541
hg17342541
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2758125
SamplesNA10859, NA10831, NA18621, NA19207, NA12154, NA18863, NA18861, NA18605, NA12750, NA18951, NA18561, NA18523, NA18966, NA12264, NA18545, NA18948, NA19203, NA18529, NA18953, NA18969, NA18573, NA18542, NA18855, NA19144, NA19210, NA10855, NA18994, NA18524, NA18965, NA18505, NA19208, NA18506, NA18862, NA18943, NA18949, NA19143, NA18632, NA19140, NA19211, NA18998, NA18508, NA18967, NA07034, NA18854, NA18635, NA18576, NA18623, NA12762, NA18991, NA18636, NA18956, NA18959, NA18547, NA18976, NA11995, NA18970, NA18537, NA18620, NA18633, NA19094, NA19103, NA18968, NA19238, NA19119, NA18558, NA18978, NA18961, NA18562, NA19131, NA18940, NA18552, NA10860, NA18995, NA19128, NA10835, NA18971, NA10830, NA12248, NA18571, NA19171, NA18532, NA18853, NA18981, NA18913, NA18980
Known GenesACHE, EPHB4, MIR6875, MUC12, MUC17, SLC12A9, SRRT, TRIM56, TRIP6, UFSP1, ZAN
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)esv2759547
Frequency
Sample Size270
Observed Gain8
Observed Loss77
Observed Complex0
Frequencyn/a


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