A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12692787



Internal ID2694603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:19111202..19116559hg38UCSC Ensembl
Innerchr7:19111202..19116559hg38UCSC Ensembl
Outerchr7:19110702..19117059hg38UCSC Ensembl
chr7:19150825..19156182hg19UCSC Ensembl
Innerchr7:19150825..19156182hg19UCSC Ensembl
Outerchr7:19150325..19156682hg19UCSC Ensembl
Cytoband7p21.1
Allele length
AssemblyAllele length
hg385358
hg195358
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3612462
Supporting Variants
SamplesNA19923
Known GenesTWIST1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12692787
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