A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10763198



Internal ID765014
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:173920627..173931897hg38UCSC Ensembl
Innerchr2:173921127..173931397hg38UCSC Ensembl
Outerchr2:173919627..173932897hg38UCSC Ensembl
chr2:174785355..174796625hg19UCSC Ensembl
Innerchr2:174785855..174796125hg19UCSC Ensembl
Outerchr2:174784355..174797625hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg3811271
hg1911271
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3593392
Supporting Variants
SamplesNA20769
Known GenesSP3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10763198
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