A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676507



Internal ID9942612
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:73609935..73613824hg38UCSC Ensembl
Outerchr4:73609778..73613977hg38UCSC Ensembl
Innerchr4:74475652..74479541hg19UCSC Ensembl
Outerchr4:74475495..74479694hg19UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg384200
hg194200
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6411234, essv6523995
SamplesNA19082, NA19080
Known GenesRASSF6
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676507
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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