A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12985452



Internal ID3847028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:141578052..141583993hg38UCSC Ensembl
Innerchr7:141578148..141583943hg38UCSC Ensembl
Outerchr7:141577914..141584131hg38UCSC Ensembl
chr7:141277852..141283793hg19UCSC Ensembl
Innerchr7:141277948..141283743hg19UCSC Ensembl
Outerchr7:141277714..141283931hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg385942
hg195942
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3615256
Supporting Variants
SamplesHG03479
Known GenesAGK
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12985452
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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