A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3615021



Internal ID7001910
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:130284789..130285834hg38UCSC Ensembl
Innerchr7:130284840..130285783hg38UCSC Ensembl
Outerchr7:130284738..130285885hg38UCSC Ensembl
chr7:129924629..129925674hg19UCSC Ensembl
Innerchr7:129924680..129925623hg19UCSC Ensembl
Outerchr7:129924578..129925725hg19UCSC Ensembl
Cytoband7q32.2
Allele length
AssemblyAllele length
hg381046
hg191046
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12971919, essv12971918, essv12971920
SamplesHG03963, HG03793, HG04098
Known GenesCPA2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3615021
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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