A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12753723



Internal ID4178706
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:42577896..42585505hg38UCSC Ensembl
Innerchr7:42577896..42585505hg38UCSC Ensembl
Outerchr7:42577737..42585649hg38UCSC Ensembl
chr7:42617495..42625104hg19UCSC Ensembl
Innerchr7:42617495..42625104hg19UCSC Ensembl
Outerchr7:42617336..42625248hg19UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg387610
hg197610
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3612971
Supporting Variants
SamplesHG03775
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12753723
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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