A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12389800



Internal ID3094821
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:63496552..63500042hg38UCSC Ensembl
Innerchr6:63496552..63500042hg38UCSC Ensembl
Outerchr6:63496462..63500165hg38UCSC Ensembl
chr6:64206457..64209947hg19UCSC Ensembl
Innerchr6:64206457..64209947hg19UCSC Ensembl
Outerchr6:64206367..64210070hg19UCSC Ensembl
Cytoband6q12
Allele length
AssemblyAllele length
hg383491
hg193491
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3609262
Supporting Variants
SamplesHG02721
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12389800
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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