A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12913131



Internal ID1889889
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:103625669..103627695hg38UCSC Ensembl
Innerchr7:103625671..103627693hg38UCSC Ensembl
Outerchr7:103625667..103627697hg38UCSC Ensembl
chr7:103266116..103268142hg19UCSC Ensembl
Innerchr7:103266118..103268140hg19UCSC Ensembl
Outerchr7:103266114..103268144hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg382027
hg192027
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3614380
Supporting Variants
SamplesHG01777
Known GenesRELN
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12913131
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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