A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3607316



Internal ID6994250
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:157421542..157423871hg38UCSC Ensembl
Innerchr5:157421542..157423871hg38UCSC Ensembl
Outerchr5:157421259..157424117hg38UCSC Ensembl
chr5:156848550..156850879hg19UCSC Ensembl
Innerchr5:156848550..156850879hg19UCSC Ensembl
Outerchr5:156848267..156851125hg19UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg382330
hg192330
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12111514, essv12111496, essv12111497, essv12111499, essv12111531, essv12111501, essv12111534, essv12111513, essv12111509, essv12111503, essv12111533, essv12111507, essv12111505, essv12111520, essv12111502, essv12111529, essv12111530, essv12111516, essv12111517, essv12111504, essv12111498, essv12111525, essv12111511, essv12111508, essv12111532, essv12111518, essv12111527, essv12111506, essv12111510, essv12111515, essv12111521, essv12111528, essv12111526, essv12111522, essv12111524, essv12111523, essv12111519, essv12111512, essv12111500
SamplesNA19055, HG00671, NA19066, NA18603, NA18940, HG02185, HG00689, NA18567, NA19054, NA19079, NA18749, HG00683, HG01046, HG02409, HG00464, NA18645, NA19091, HG01864, NA18637, NA18572, NA18981, NA18537, HG00956, HG00844, HG00531, HG02048, NA18963, NA18541, HG01878, NA18941, HG02019, NA19085, NA18971, HG01028, HG00698, NA19080, NA18957, NA19074, NA18965
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3607316
Frequency
Sample Size2504
Observed Gain0
Observed Loss39
Observed Complex0
Frequencyn/a


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