A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12889040



Internal ID1147586
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:91719129..91725939hg38UCSC Ensembl
Innerchr7:91719144..91725924hg38UCSC Ensembl
Outerchr7:91719114..91725954hg38UCSC Ensembl
chr7:91348444..91355254hg19UCSC Ensembl
Innerchr7:91348459..91355239hg19UCSC Ensembl
Outerchr7:91348429..91355269hg19UCSC Ensembl
Cytoband7q21.2
Allele length
AssemblyAllele length
hg386811
hg196811
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3614128
Supporting Variants
SamplesHG00982
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12889040
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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