A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12674629



Internal ID3768462
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:7347896..7393238hg38UCSC Ensembl
Innerchr7:7347896..7393238hg38UCSC Ensembl
Outerchr7:7347396..7393738hg38UCSC Ensembl
chr7:7387527..7432869hg19UCSC Ensembl
Innerchr7:7387527..7432869hg19UCSC Ensembl
Outerchr7:7387027..7433369hg19UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg3845343
hg1945343
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3612075
Supporting Variants
SamplesHG03401
Known GenesCOL28A1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12674629
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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