A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758443



Internal ID9633902
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:18331211..18543070hg38UCSC Ensembl
Innerchr17:18234525..18446384hg19UCSC Ensembl
Innerchr17:18175250..18387109hg18UCSC Ensembl
Innerchr17:18175250..18387109hg17UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38211860
hg19211860
hg18211860
hg17211860
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2758677
Supporting Variantsessv3097, essv16809, essv7265, essv8349, essv8430, essv6618, essv16076, essv10490, essv17127, essv16455, essv12358, essv9102, essv11134, essv17948, essv9648, essv10127, essv2003, essv10699, essv10317, essv13687, essv13481, essv21265, essv8947, essv8186, essv268, essv16495, essv14121, essv16334, essv1463, essv9690, essv11534, essv2194, essv2833, essv9317, essv14733, essv12723, essv13645, essv12502, essv14345, essv178, essv15568, essv5439, essv23360, essv14381, essv8868, essv371, essv11686, essv10532, essv16990, essv21701, essv492, essv15457, essv9130, essv9199, essv18230, essv8165, essv18405, essv12199, essv15043, essv884, essv10218, essv15702, essv14979, essv4887, essv12387, essv17556, essv24799, essv14566
SamplesNA19141, NA18621, NA18861, NA18592, NA18508, NA18855, NA18561, NA18507, NA12248, NA18870, NA12750, NA18969, NA19127, NA19192, NA19171, NA18944, NA19119, NA18860, NA18960, NA12762, NA19138, NA19130, NA18949, NA19137, NA19238, NA19207, NA19128, NA19159, NA10855, NA19200, NA19210, NA19194, NA12003, NA19152, NA18515, NA18516, NA19202, NA19000, NA12249, NA18912, NA19154, NA18853, NA19101, NA19132, NA18858, NA18953, NA18978, NA18914, NA18632, NA19206, NA18952, NA12057, NA18913, NA19240, NA19144, NA19193, NA18501, NA18971, NA19173, NA19211, NA10860, NA18506, NA19116, NA18872, NA18505, NA19129, NA18968, NA19139
Known GenesCCDC144B, EVPLL, FAM106A, FLJ35934, KRT16P1, LGALS9C, LOC339240, MIR6778, SHMT1, USP32P2
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)esv2758443
Frequency
Sample Size270
Observed Gain63
Observed Loss5
Observed Complex0
Frequencyn/a


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