A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3409486



Internal ID15256447
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:44028128..44032226hg38UCSC Ensembl
Innerchr7:44029128..44031226hg38UCSC Ensembl
Outerchr7:44027128..44033226hg38UCSC Ensembl
chr7:44067727..44071825hg19UCSC Ensembl
Innerchr7:44068727..44070825hg19UCSC Ensembl
Outerchr7:44066727..44072825hg19UCSC Ensembl
chr7:44034252..44038350hg18UCSC Ensembl
Innerchr7:44035252..44037350hg18UCSC Ensembl
Outerchr7:44033252..44039350hg18UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg384099
hg194099
hg184099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3785e59
Supporting Variantsessv8695790
SamplesNA19240
Known GenesRASA4CP
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3409486
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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