A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12962987



Internal ID2964803
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:128288283..128308105hg38UCSC Ensembl
chr7:127928336..127948158hg19UCSC Ensembl
Cytoband7q32.1
Allele length
AssemblyAllele length
hg3819823
hg1919823
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3614966
Supporting Variants
SamplesHG01707
Known GenesMGC27345
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12962987
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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