A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12387651



Internal ID5753001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:61593178..61600026hg38UCSC Ensembl
Innerchr6:61593195..61600010hg38UCSC Ensembl
Outerchr6:61593162..61600043hg38UCSC Ensembl
chr6:62303083..62309931hg19UCSC Ensembl
Innerchr6:62303100..62309915hg19UCSC Ensembl
Outerchr6:62303067..62309948hg19UCSC Ensembl
Cytoband6q11.1
Allele length
AssemblyAllele length
hg386849
hg196849
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3609207
Supporting Variants
SamplesNA19121
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12387651
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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