A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7843557



Internal ID13622574
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:131654129..131654146hg38UCSC Ensembl
Outerchr7:131654129..131654146hg38UCSC Ensembl
Innerchr7:131338888..131338905hg19UCSC Ensembl
Outerchr7:131338888..131338905hg19UCSC Ensembl
Innerchr7:130989445..130989428hg18UCSC Ensembl
Outerchr7:130989428..130989445hg18UCSC Ensembl
Cytoband7q32.3
Allele length
AssemblyAllele length
hg38215
hg19215
hg18215
Variant TypeCNV novel sequence insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3310584
Supporting Variants
SamplesNA12878
Known Genes
MethodSequencing
AnalysisNovelSeq
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7843557
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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