A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12750060



Internal ID2236708
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:40226085..40281378hg38UCSC Ensembl
chr7:40265684..40320977hg19UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg3855294
hg1955294
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3612927
Supporting Variants
SamplesHG02009
Known GenesC7orf10
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12750060
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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