A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12981288



Internal ID2983104
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:138547576..138550813hg38UCSC Ensembl
Innerchr7:138547576..138550813hg38UCSC Ensembl
Outerchr7:138547394..138550997hg38UCSC Ensembl
chr7:138232321..138235558hg19UCSC Ensembl
Innerchr7:138232321..138235558hg19UCSC Ensembl
Outerchr7:138232139..138235742hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg383238
hg193238
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3615194
Supporting Variants
SamplesHG00245
Known GenesTRIM24
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12981288
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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