A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12981879



Internal ID3660101
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:138942686..138943657hg38UCSC Ensembl
Innerchr7:138942736..138943607hg38UCSC Ensembl
Outerchr7:138942622..138943721hg38UCSC Ensembl
chr7:138627432..138628403hg19UCSC Ensembl
Innerchr7:138627482..138628353hg19UCSC Ensembl
Outerchr7:138627368..138628467hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg38972
hg19972
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3615205
Supporting Variants
SamplesHG03259
Known GenesKIAA1549
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12981879
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer