A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12363365



Internal ID2944442
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:55698997..55741123hg38UCSC Ensembl
Innerchr6:55698997..55741123hg38UCSC Ensembl
Outerchr6:55698497..55741623hg38UCSC Ensembl
chr6:55563795..55605921hg19UCSC Ensembl
Innerchr6:55563795..55605921hg19UCSC Ensembl
Outerchr6:55563295..55606421hg19UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg3842127
hg1942127
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3609076
Supporting Variants
SamplesHG02601
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12363365
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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