A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3612265



Internal ID6999166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:12704745..12710413hg38UCSC Ensembl
Innerchr7:12704756..12710402hg38UCSC Ensembl
Outerchr7:12704734..12710424hg38UCSC Ensembl
chr7:12744370..12750038hg19UCSC Ensembl
Innerchr7:12744381..12750027hg19UCSC Ensembl
Outerchr7:12744359..12750049hg19UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg385669
hg195669
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12683837, essv12683838
SamplesHG02816, HG01440
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3612265
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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