A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3613952



Internal ID7000847
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:83997062..84048404hg38UCSC Ensembl
Innerchr7:83997062..84048404hg38UCSC Ensembl
Outerchr7:83996562..84048904hg38UCSC Ensembl
chr7:83626378..83677720hg19UCSC Ensembl
Innerchr7:83626378..83677720hg19UCSC Ensembl
Outerchr7:83625878..83678220hg19UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg3851343
hg1951343
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12875031
SamplesHG04054
Known GenesSEMA3A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3613952
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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