A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12674641



Internal ID1753865
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:7408005..7445476hg38UCSC Ensembl
Innerchr7:7408505..7444976hg38UCSC Ensembl
Outerchr7:7407005..7446476hg38UCSC Ensembl
chr7:7447636..7485107hg19UCSC Ensembl
Innerchr7:7448136..7484607hg19UCSC Ensembl
Outerchr7:7446636..7486107hg19UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg3837472
hg1937472
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3612082
Supporting Variants
SamplesHG01618
Known GenesCOL28A1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12674641
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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