A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13946448



Internal ID1418051
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:117006401..117009734hg38UCSC Ensembl
Innerchr10:117006494..117009684hg38UCSC Ensembl
Outerchr10:117006298..117009837hg38UCSC Ensembl
chr10:118765912..118769245hg19UCSC Ensembl
Innerchr10:118766005..118769195hg19UCSC Ensembl
Outerchr10:118765809..118769348hg19UCSC Ensembl
Cytoband10q25.3
Allele length
AssemblyAllele length
hg383334
hg193334
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3624670
Supporting Variants
SamplesHG01284
Known GenesKIAA1598
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13946448
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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