A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12726982



Internal ID3926033
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:35099400..35153502hg38UCSC Ensembl
Innerchr7:35099400..35153502hg38UCSC Ensembl
Outerchr7:35098900..35154002hg38UCSC Ensembl
chr7:35139012..35193114hg19UCSC Ensembl
Innerchr7:35139012..35193114hg19UCSC Ensembl
Outerchr7:35138512..35193614hg19UCSC Ensembl
Cytoband7p14.2
Allele length
AssemblyAllele length
hg3854103
hg1954103
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3612810
Supporting Variants
SamplesHG03577
Known GenesDPY19L2P1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12726982
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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