A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7866169



Internal ID13318287
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:50314721..50314732hg38UCSC Ensembl
Innerchr20:50314723..50314730hg38UCSC Ensembl
Outerchr20:50314719..50314734hg38UCSC Ensembl
chr20:48931258..48931269hg19UCSC Ensembl
Innerchr20:48931260..48931267hg19UCSC Ensembl
Outerchr20:48931256..48931271hg19UCSC Ensembl
chr20:48364665..48364676hg18UCSC Ensembl
Innerchr20:48364667..48364674hg18UCSC Ensembl
Outerchr20:48364663..48364678hg18UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg3851
hg1951
hg1851
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3350249
Supporting Variants
SamplesNA12005
Known GenesLOC284751
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7866169
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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