A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13053035



Internal ID3054851
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:158525130..158738184hg38UCSC Ensembl
Innerchr7:158525280..158738034hg38UCSC Ensembl
Outerchr7:158524980..158738334hg38UCSC Ensembl
chr7:158317822..158530875hg19UCSC Ensembl
Innerchr7:158317972..158530725hg19UCSC Ensembl
Outerchr7:158317672..158531025hg19UCSC Ensembl
Cytoband7q36.3
Allele length
AssemblyAllele length
hg38213055
hg19213054
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3615729
Supporting Variants
SamplesHG03706
Known GenesESYT2, MIR5707, MIR595, NCAPG2, PTPRN2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13053035
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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