A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12891552



Internal ID1012027
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:93637824..93640305hg38UCSC Ensembl
Innerchr7:93637849..93640281hg38UCSC Ensembl
Outerchr7:93637800..93640330hg38UCSC Ensembl
chr7:93267136..93269617hg19UCSC Ensembl
Innerchr7:93267161..93269593hg19UCSC Ensembl
Outerchr7:93267112..93269642hg19UCSC Ensembl
Cytoband7q21.3
Allele length
AssemblyAllele length
hg382482
hg192482
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3614165
Supporting Variants
SamplesHG00632
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12891552
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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