A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12966325



Internal ID2968141
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:129201205..129201905hg38UCSC Ensembl
Innerchr7:129201252..129201858hg38UCSC Ensembl
Outerchr7:129201158..129201952hg38UCSC Ensembl
chr7:128841046..128841746hg19UCSC Ensembl
Innerchr7:128841093..128841699hg19UCSC Ensembl
Outerchr7:128840999..128841793hg19UCSC Ensembl
Cytoband7q32.1
Allele length
AssemblyAllele length
hg38701
hg19701
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3614995
Supporting Variants
SamplesHG03598
Known GenesSMO
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12966325
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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