A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12263970



Internal ID2265786
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:31903347..31910697hg38UCSC Ensembl
Innerchr6:31903497..31910547hg38UCSC Ensembl
Outerchr6:31903197..31910847hg38UCSC Ensembl
chr6:31871124..31878474hg19UCSC Ensembl
Innerchr6:31871274..31878324hg19UCSC Ensembl
Outerchr6:31870974..31878624hg19UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg387351
hg197351
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608572
Supporting Variants
SamplesNA19456
Known GenesC2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12263970
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