A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12503932



Internal ID6214061
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:111257849..111260292hg38UCSC Ensembl
Innerchr6:111257899..111260242hg38UCSC Ensembl
Outerchr6:111257735..111260406hg38UCSC Ensembl
chr6:111579052..111581495hg19UCSC Ensembl
Innerchr6:111579102..111581445hg19UCSC Ensembl
Outerchr6:111578938..111581609hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg382444
hg192444
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610377
Supporting Variants
SamplesNA19741
Known GenesKIAA1919
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12503932
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer