A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10536662



Internal ID538478
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:70025793..70026959hg38UCSC Ensembl
Innerchr2:70025818..70026934hg38UCSC Ensembl
Outerchr2:70025768..70026984hg38UCSC Ensembl
chr2:70252925..70254091hg19UCSC Ensembl
Innerchr2:70252950..70254066hg19UCSC Ensembl
Outerchr2:70252900..70254116hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg381167
hg191167
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3591196
Supporting Variants
SamplesHG03863
Known GenesPCBP1-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10536662
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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