A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3613936



Internal ID7000831
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:83466199..83523467hg38UCSC Ensembl
Innerchr7:83466199..83523467hg38UCSC Ensembl
Outerchr7:83465699..83523967hg38UCSC Ensembl
chr7:83095515..83152783hg19UCSC Ensembl
Innerchr7:83095515..83152783hg19UCSC Ensembl
Outerchr7:83095015..83153283hg19UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg3857269
hg1957269
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12874781
SamplesHG04054
Known GenesSEMA3E
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3613936
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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