A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10505162



Internal ID4959988
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:52063946..52173984hg38UCSC Ensembl
Innerchr2:52063961..52173969hg38UCSC Ensembl
Outerchr2:52063931..52173999hg38UCSC Ensembl
chr2:52291084..52401122hg19UCSC Ensembl
Innerchr2:52291099..52401107hg19UCSC Ensembl
Outerchr2:52291069..52401137hg19UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg38110039
hg19110039
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590777
Supporting Variants
SamplesNA12830
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10505162
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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