A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8695794



Internal ID14748988
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:44255728..44260226hg38UCSC Ensembl
Innerchr7:44256728..44259226hg38UCSC Ensembl
Outerchr7:44254728..44261226hg38UCSC Ensembl
chr7:44295327..44299825hg19UCSC Ensembl
Innerchr7:44296327..44298825hg19UCSC Ensembl
Outerchr7:44294327..44300825hg19UCSC Ensembl
chr7:44261852..44266350hg18UCSC Ensembl
Innerchr7:44262852..44265350hg18UCSC Ensembl
Outerchr7:44260852..44267350hg18UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg384499
hg194499
hg184499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3427474
Supporting Variants
SamplesNA19240
Known GenesCAMK2B
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8695794
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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