A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13732565



Internal ID3734381
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:27138085..27696800hg38UCSC Ensembl
Innerchr10:27138235..27696650hg38UCSC Ensembl
Outerchr10:27137935..27696950hg38UCSC Ensembl
chr10:27427014..27985729hg19UCSC Ensembl
Innerchr10:27427164..27985579hg19UCSC Ensembl
Outerchr10:27426864..27985879hg19UCSC Ensembl
Cytoband10p12.1
Allele length
AssemblyAllele length
hg38558716
hg19558716
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3622708
Supporting Variants
SamplesHG00631
Known GenesACBD5, LRRC37A6P, MASTL, MKX, PTCHD3, RAB18, YME1L1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13732565
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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