A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3610949



Internal ID6997865
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:137861352..137862279hg38UCSC Ensembl
Innerchr6:137861352..137862279hg38UCSC Ensembl
Outerchr6:137861037..137862579hg38UCSC Ensembl
chr6:138182489..138183416hg19UCSC Ensembl
Innerchr6:138182489..138183416hg19UCSC Ensembl
Outerchr6:138182174..138183716hg19UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg38928
hg19928
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12565553, essv12565556, essv12565576, essv12565557, essv12565573, essv12565563, essv12565562, essv12565565, essv12565575, essv12565561, essv12565554, essv12565558, essv12565572, essv12565571, essv12565564, essv12565570, essv12565560, essv12565566, essv12565577, essv12565559, essv12565578, essv12565552, essv12565567, essv12565574, essv12565555, essv12565569, essv12565568
SamplesNA19394, HG01986, HG01485, HG01965, HG01303, HG02419, NA19092, NA18486, HG03295, HG03095, HG03452, HG02952, HG03460, HG02502, HG01880, HG01149, HG03294, NA18907, NA19401, NA19256, HG02941, HG03304, NA18501, HG03112, HG03066, HG03410, HG03303
Known GenesLOC100130476
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3610949
Frequency
Sample Size2504
Observed Gain0
Observed Loss27
Observed Complex0
Frequencyn/a


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