A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12972050



Internal ID2973866
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:130817049..130820885hg38UCSC Ensembl
Innerchr7:130817077..130820858hg38UCSC Ensembl
Outerchr7:130817022..130820913hg38UCSC Ensembl
chr7:130501808..130505644hg19UCSC Ensembl
Innerchr7:130501836..130505617hg19UCSC Ensembl
Outerchr7:130501781..130505672hg19UCSC Ensembl
Cytoband7q32.3
Allele length
AssemblyAllele length
hg383837
hg193837
Variant TypeCNV loss
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3615027
Supporting Variants
SamplesNA12342
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12972050
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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