A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12985428



Internal ID3173482
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:141507481..141508626hg38UCSC Ensembl
Innerchr7:141507484..141508624hg38UCSC Ensembl
Outerchr7:141507479..141508629hg38UCSC Ensembl
chr7:141207281..141208426hg19UCSC Ensembl
Innerchr7:141207284..141208424hg19UCSC Ensembl
Outerchr7:141207279..141208429hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg381146
hg191146
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3615254
Supporting Variants
SamplesHG02790
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12985428
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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