A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3418820



Internal ID15265778
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:31656949..31657232hg38UCSC Ensembl
Innerchr7:31656949..31657232hg38UCSC Ensembl
Outerchr7:31656652..31657862hg38UCSC Ensembl
chr7:31696563..31696846hg19UCSC Ensembl
Innerchr7:31696563..31696846hg19UCSC Ensembl
Outerchr7:31696266..31697476hg19UCSC Ensembl
chr7:31663088..31663371hg18UCSC Ensembl
Innerchr7:31663088..31663371hg18UCSC Ensembl
Outerchr7:31662791..31664001hg18UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg38284
hg19284
hg18284
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8652368
SamplesNA19240
Known GenesCCDC129
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3418820
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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