A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12683838



Internal ID3210221
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3612265
Supporting Variants
SamplesHG02816
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12683838
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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