A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3592648



Internal ID6632931
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:138894525..138900390hg38UCSC Ensembl
Innerchr2:138894565..138900351hg38UCSC Ensembl
Outerchr2:138894486..138900430hg38UCSC Ensembl
chr2:139652095..139657960hg19UCSC Ensembl
Innerchr2:139652135..139657921hg19UCSC Ensembl
Outerchr2:139652056..139658000hg19UCSC Ensembl
Cytoband2q22.1
Allele length
AssemblyAllele length
hg385866
hg195866
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10689897
SamplesHG02223
Known GenesYY1P2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3592648
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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