A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9676592



Internal ID13070444
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:59482866..59482885hg38UCSC Ensembl
Innerchr18:59482862..59482889hg38UCSC Ensembl
Outerchr18:59482843..59482908hg38UCSC Ensembl
chr18:57150098..57150117hg19UCSC Ensembl
Innerchr18:57150094..57150121hg19UCSC Ensembl
Outerchr18:57150075..57150140hg19UCSC Ensembl
chr18:55301078..55301097hg18UCSC Ensembl
Innerchr18:55301101..55301074hg18UCSC Ensembl
Outerchr18:55301055..55301120hg18UCSC Ensembl
Cytoband18q21.32
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3397864
Supporting Variants
SamplesNA07347
Known GenesCCBE1
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv9676592
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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