A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11854937



Internal ID1856753
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:31525629..32360060hg38UCSC Ensembl
Innerchr5:31525779..32359910hg38UCSC Ensembl
Outerchr5:31525479..32360210hg38UCSC Ensembl
chr5:31525736..32360166hg19UCSC Ensembl
Innerchr5:31525886..32360016hg19UCSC Ensembl
Outerchr5:31525586..32360316hg19UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg38834432
hg19834431
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3604580
Supporting Variants
SamplesNA12717
Known GenesC5orf22, DROSHA, GOLPH3, MIR4279, MTMR12, PDZD2, ZFR
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11854937
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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