A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12309888



Internal ID2311704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:33439052..34076935hg38UCSC Ensembl
Innerchr6:33439202..34076785hg38UCSC Ensembl
Outerchr6:33438902..34077085hg38UCSC Ensembl
chr6:33406829..34044712hg19UCSC Ensembl
Innerchr6:33406979..34044562hg19UCSC Ensembl
Outerchr6:33406679..34044862hg19UCSC Ensembl
Cytoband6p21.31
Allele length
AssemblyAllele length
hg38637884
hg19637884
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608630
Supporting Variants
SamplesHG00662
Known GenesBAK1, GGNBP1, GRM4, IP6K3, ITPR3, LEMD2, LINC00336, LINC01016, MIR1275, MIR7159, MLN, SYNGAP1, UQCC2, ZBTB9
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12309888
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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