A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13937796



Internal ID2721843
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:112327745..112333443hg38UCSC Ensembl
Innerchr10:112327756..112333433hg38UCSC Ensembl
Outerchr10:112327735..112333454hg38UCSC Ensembl
chr10:114087503..114093201hg19UCSC Ensembl
Innerchr10:114087514..114093191hg19UCSC Ensembl
Outerchr10:114087493..114093212hg19UCSC Ensembl
Cytoband10q25.2
Allele length
AssemblyAllele length
hg385699
hg195699
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3624580
Supporting Variants
SamplesHG02397
Known GenesGUCY2GP
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13937796
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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