A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6262820



Internal ID9240223
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:17591392..17593723hg38UCSC Ensembl
Outerchr4:17591235..17593884hg38UCSC Ensembl
Innerchr4:17593015..17595346hg19UCSC Ensembl
Outerchr4:17592858..17595507hg19UCSC Ensembl
Cytoband4p15.32
Allele length
AssemblyAllele length
hg382650
hg192650
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2666830
Supporting Variants
SamplesHG00625
Known GenesLAP3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6262820
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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