A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12843199



Internal ID2845015
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:74170417..74179148hg38UCSC Ensembl
Innerchr7:74170417..74179148hg38UCSC Ensembl
Outerchr7:74169917..74179648hg38UCSC Ensembl
chr7:73584747..73593478hg19UCSC Ensembl
Innerchr7:73584747..73593478hg19UCSC Ensembl
Outerchr7:73584247..73593978hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg388732
hg198732
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3613703
Supporting Variants
SamplesHG00342
Known GenesEIF4H
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12843199
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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