A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10393760



Internal ID6212436
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:2528093..2530000hg38UCSC Ensembl
Innerchr2:2528101..2529993hg38UCSC Ensembl
Outerchr2:2528086..2530008hg38UCSC Ensembl
chr2:2531865..2533772hg19UCSC Ensembl
Innerchr2:2531873..2533765hg19UCSC Ensembl
Outerchr2:2531858..2533780hg19UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg381908
hg191908
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589646
Supporting Variants
SamplesNA19740
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10393760
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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