A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3613956



Internal ID7000851
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:84057039..84143578hg38UCSC Ensembl
Innerchr7:84057039..84143578hg38UCSC Ensembl
Outerchr7:84056539..84144078hg38UCSC Ensembl
chr7:83686355..83772894hg19UCSC Ensembl
Innerchr7:83686355..83772894hg19UCSC Ensembl
Outerchr7:83685855..83773394hg19UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg3886540
hg1986540
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12875058
SamplesHG04054
Known GenesSEMA3A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3613956
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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