A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12505956



Internal ID1615227
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:113624440..113636352hg38UCSC Ensembl
Innerchr6:113624440..113636352hg38UCSC Ensembl
Outerchr6:113623940..113636852hg38UCSC Ensembl
chr6:113945642..113957554hg19UCSC Ensembl
Innerchr6:113945642..113957554hg19UCSC Ensembl
Outerchr6:113945142..113958054hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg3811913
hg1911913
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610418
Supporting Variants
SamplesHG01497
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12505956
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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