A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10557295



Internal ID559111
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:79536262..79584505hg38UCSC Ensembl
Innerchr2:79536262..79584505hg38UCSC Ensembl
Outerchr2:79535972..79584751hg38UCSC Ensembl
chr2:79763388..79811631hg19UCSC Ensembl
Innerchr2:79763388..79811631hg19UCSC Ensembl
Outerchr2:79763098..79811877hg19UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg3848244
hg1948244
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3591409
Supporting Variants
SamplesHG03238
Known GenesCTNNA2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10557295
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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