A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13953884



Internal ID3955700
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:121954563..121957686hg38UCSC Ensembl
Innerchr10:121954577..121957672hg38UCSC Ensembl
Outerchr10:121954549..121957700hg38UCSC Ensembl
chr10:123714078..123717201hg19UCSC Ensembl
Innerchr10:123714092..123717187hg19UCSC Ensembl
Outerchr10:123714064..123717215hg19UCSC Ensembl
Cytoband10q26.13
Allele length
AssemblyAllele length
hg383124
hg193124
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3624763
Supporting Variants
SamplesHG02604
Known GenesNSMCE4A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13953884
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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