A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6011736



Internal ID8989139
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:36352826..36353911hg38UCSC Ensembl
Outerchr1:36352789..36353961hg38UCSC Ensembl
Innerchr1:36818427..36819512hg19UCSC Ensembl
Outerchr1:36818390..36819562hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg381173
hg191173
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2676376
Supporting Variants
SamplesHG01354
Known GenesSTK40
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6011736
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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