A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10447737



Internal ID449553
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:32713504..32716900hg38UCSC Ensembl
Innerchr2:32713516..32716889hg38UCSC Ensembl
Outerchr2:32713493..32716912hg38UCSC Ensembl
chr2:32938571..32941967hg19UCSC Ensembl
Innerchr2:32938583..32941956hg19UCSC Ensembl
Outerchr2:32938560..32941979hg19UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg383397
hg193397
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590261
Supporting Variants
SamplesNA18611
Known GenesTTC27
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10447737
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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