A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12911500



Internal ID3295941
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:102116192..102124587hg38UCSC Ensembl
Innerchr7:102116217..102124562hg38UCSC Ensembl
Outerchr7:102116167..102124612hg38UCSC Ensembl
chr7:101759472..101767867hg19UCSC Ensembl
Innerchr7:101759497..101767842hg19UCSC Ensembl
Outerchr7:101759447..101767892hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg388396
hg198396
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3614346
Supporting Variants
SamplesHG02938
Known GenesCUX1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12911500
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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