A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3330432



Internal ID15177421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:21612206..21612253hg38UCSC Ensembl
Innerchr7:21612138..21612321hg38UCSC Ensembl
Outerchr7:21612091..21612368hg38UCSC Ensembl
chr7:21651824..21651871hg19UCSC Ensembl
Innerchr7:21651756..21651939hg19UCSC Ensembl
Outerchr7:21651709..21651986hg19UCSC Ensembl
chr7:21618349..21618396hg18UCSC Ensembl
Innerchr7:21618464..21618281hg18UCSC Ensembl
Outerchr7:21618234..21618511hg18UCSC Ensembl
Cytoband7p15.3
Allele length
AssemblyAllele length
hg3857
hg1957
hg1857
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7862704
SamplesNA12005
Known GenesDNAH11
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3330432
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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