A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3303405



Internal ID14803667
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:130854321..130854322hg38UCSC Ensembl
Innerchr6:130854304..130854339hg38UCSC Ensembl
Outerchr6:130854303..130854340hg38UCSC Ensembl
chr6:131175461..131175462hg19UCSC Ensembl
Innerchr6:131175444..131175479hg19UCSC Ensembl
Outerchr6:131175443..131175480hg19UCSC Ensembl
chr6:131217154..131217155hg18UCSC Ensembl
Innerchr6:131217172..131217137hg18UCSC Ensembl
Outerchr6:131217136..131217173hg18UCSC Ensembl
Cytoband6q23.1
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7809892, essv7814403, essv7780992, essv7799145, essv7788456, essv7813289, essv7822297, essv7802821, essv7788286, essv7820747, essv7824850, essv7782627, essv7802518, essv7833924, essv7834880, essv7820099, essv7801125, essv7772469, essv7800080
SamplesNA12717, NA11995, NA12814, NA10851, NA12045, NA12751, NA12828, NA18638, NA12003, NA12872, NA18572, NA12144, NA12043, NA18608, NA11881, NA12873, NA07037, NA06986, NA12749
Known GenesEPB41L2
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3303405
Frequency
Sample Size185
Observed Gain19
Observed Loss0
Observed Complex0
Frequencyn/a


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