A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585595



Internal ID6973116
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:28937464..28938626hg38UCSC Ensembl
Innerchr1:28937464..28938626hg38UCSC Ensembl
Outerchr1:28937178..28938931hg38UCSC Ensembl
chr1:29263976..29265138hg19UCSC Ensembl
Innerchr1:29263976..29265138hg19UCSC Ensembl
Outerchr1:29263690..29265443hg19UCSC Ensembl
Cytoband1p35.3
Allele length
AssemblyAllele length
hg381163
hg191163
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9894800
SamplesNA18552
Known GenesEPB41
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585595
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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