A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12327721



Internal ID2329537
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:41205402..41211773hg38UCSC Ensembl
Innerchr6:41205902..41211273hg38UCSC Ensembl
Outerchr6:41204402..41212773hg38UCSC Ensembl
chr6:41173140..41179511hg19UCSC Ensembl
Innerchr6:41173640..41179011hg19UCSC Ensembl
Outerchr6:41172140..41180511hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg386372
hg196372
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608788
Supporting Variants
SamplesHG00623
Known GenesTREML3P
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12327721
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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