A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12327719



Internal ID3419002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:41134826..41139357hg38UCSC Ensembl
Innerchr6:41134877..41139307hg38UCSC Ensembl
Outerchr6:41134776..41139408hg38UCSC Ensembl
chr6:41102565..41107095hg19UCSC Ensembl
Innerchr6:41102616..41107045hg19UCSC Ensembl
Outerchr6:41102515..41107146hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg384532
hg194531
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608787
Supporting Variants
SamplesHG03058
Known GenesADCY10P1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12327719
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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