A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12709481



Internal ID2711297
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:25958361..26200719hg38UCSC Ensembl
Innerchr7:25958511..26200569hg38UCSC Ensembl
Outerchr7:25958211..26200869hg38UCSC Ensembl
chr7:25997981..26240339hg19UCSC Ensembl
Innerchr7:25998131..26240189hg19UCSC Ensembl
Outerchr7:25997831..26240489hg19UCSC Ensembl
Cytoband7p15.2
Allele length
AssemblyAllele length
hg38242359
hg19242359
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3612615
Supporting Variants
SamplesHG02006
Known GenesHNRNPA2B1, NFE2L3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12709481
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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