A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3596064



Internal ID6983382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:46613191..46614798hg38UCSC Ensembl
Innerchr3:46613191..46614798hg38UCSC Ensembl
Outerchr3:46613032..46614992hg38UCSC Ensembl
chr3:46654681..46656288hg19UCSC Ensembl
Innerchr3:46654681..46656288hg19UCSC Ensembl
Outerchr3:46654522..46656482hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg381608
hg191608
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10999050
SamplesNA19054
Known GenesLOC100132146
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3596064
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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