A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3587220



Internal ID6627527
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:112799476..112890745hg38UCSC Ensembl
chr1:113342098..113433367hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg3891270
hg1991270
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10076662
SamplesNA18523
Known GenesLOC100996702
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3587220
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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