A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3430553



Internal ID14930823
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:139694379..139694572hg38UCSC Ensembl
Innerchr7:139694429..139694522hg38UCSC Ensembl
Outerchr7:139694329..139694622hg38UCSC Ensembl
chr7:139379125..139379318hg19UCSC Ensembl
Innerchr7:139379175..139379268hg19UCSC Ensembl
Outerchr7:139379075..139379368hg19UCSC Ensembl
chr7:139029665..139029858hg18UCSC Ensembl
Innerchr7:139029715..139029808hg18UCSC Ensembl
Outerchr7:139029615..139029908hg18UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg38194
hg19194
hg18194
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8741285
SamplesNA19240
Known GenesHIPK2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3430553
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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