A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8695789



Internal ID15054967
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:44027928..44032626hg38UCSC Ensembl
Innerchr7:44028928..44031626hg38UCSC Ensembl
Outerchr7:44026928..44033626hg38UCSC Ensembl
chr7:44067527..44072225hg19UCSC Ensembl
Innerchr7:44068527..44071225hg19UCSC Ensembl
Outerchr7:44066527..44073225hg19UCSC Ensembl
chr7:44034052..44038750hg18UCSC Ensembl
Innerchr7:44035052..44037750hg18UCSC Ensembl
Outerchr7:44033052..44039750hg18UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg384699
hg194699
hg184699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3335929
Supporting Variants
SamplesNA19239
Known GenesRASA4CP
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8695789
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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