A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13971750



Internal ID1224274
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:128784082..128787325hg38UCSC Ensembl
Innerchr10:128784095..128787312hg38UCSC Ensembl
Outerchr10:128784069..128787338hg38UCSC Ensembl
chr10:130582346..130585589hg19UCSC Ensembl
Innerchr10:130582359..130585576hg19UCSC Ensembl
Outerchr10:130582333..130585602hg19UCSC Ensembl
Cytoband10q26.2
Allele length
AssemblyAllele length
hg383244
hg193244
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3624908
Supporting Variants
SamplesHG01086
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13971750
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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