A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7864624



Internal ID13317180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:88661664..88661686hg38UCSC Ensembl
Innerchr6:88661629..88661721hg38UCSC Ensembl
Outerchr6:88661607..88661743hg38UCSC Ensembl
chr6:89371383..89371405hg19UCSC Ensembl
Innerchr6:89371348..89371440hg19UCSC Ensembl
Outerchr6:89371326..89371462hg19UCSC Ensembl
chr6:89428102..89428124hg18UCSC Ensembl
Innerchr6:89428159..89428067hg18UCSC Ensembl
Outerchr6:89428045..89428181hg18UCSC Ensembl
Cytoband6q15
Allele length
AssemblyAllele length
hg3855
hg1955
hg1855
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3391527
Supporting Variants
SamplesNA12005
Known GenesRNGTT
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7864624
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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