A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3610896



Internal ID6651121
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:135483868..135484734hg38UCSC Ensembl
Innerchr6:135483906..135484697hg38UCSC Ensembl
Outerchr6:135483831..135484772hg38UCSC Ensembl
chr6:135805006..135805872hg19UCSC Ensembl
Innerchr6:135805044..135805835hg19UCSC Ensembl
Outerchr6:135804969..135805910hg19UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg38867
hg19867
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12559780, essv12559775, essv12559783, essv12559776, essv12559784, essv12559779, essv12559778, essv12559785, essv12559773, essv12559781, essv12559777, essv12559771, essv12559774, essv12559786, essv12559772, essv12559782, essv12559787
SamplesHG02983, NA19023, HG02887, HG03048, HG02322, HG02588, HG02716, HG02643, HG03473, HG02611, HG02111, HG03073, HG02629, HG03074, HG02678, HG01912, NA19456
Known GenesAHI1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3610896
Frequency
Sample Size2504
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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