A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10447734



Internal ID449550
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:32674797..32675918hg38UCSC Ensembl
Innerchr2:32674838..32675878hg38UCSC Ensembl
Outerchr2:32674757..32675959hg38UCSC Ensembl
chr2:32899864..32900985hg19UCSC Ensembl
Innerchr2:32899905..32900945hg19UCSC Ensembl
Outerchr2:32899824..32901026hg19UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg381122
hg191122
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590258
Supporting Variants
SamplesNA18959
Known GenesTTC27
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10447734
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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