A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13984521



Internal ID3986337
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:133200862..133379742hg38UCSC Ensembl
Innerchr10:133201012..133379592hg38UCSC Ensembl
Outerchr10:133200712..133379892hg38UCSC Ensembl
chr10:135014366..135193246hg19UCSC Ensembl
Innerchr10:135014516..135193096hg19UCSC Ensembl
Outerchr10:135014216..135193396hg19UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38178881
hg19178881
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3625030
Supporting Variants
SamplesNA20516
Known GenesADAM8, CALY, ECHS1, FUOM, KNDC1, MIR202, MIR202HG, MIR3944, PAOX, PRAP1, TUBGCP2, UTF1, VENTX, ZNF511
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13984521
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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