A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3612830



Internal ID6999730
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:36173471..36179673hg38UCSC Ensembl
Innerchr7:36173481..36179663hg38UCSC Ensembl
Outerchr7:36173461..36179683hg38UCSC Ensembl
chr7:36213080..36219282hg19UCSC Ensembl
Innerchr7:36213090..36219272hg19UCSC Ensembl
Outerchr7:36213070..36219292hg19UCSC Ensembl
Cytoband7p14.2
Allele length
AssemblyAllele length
hg386203
hg196203
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12733118
SamplesHG00442
Known GenesEEPD1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3612830
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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