A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671649



Internal ID9937754
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:34565315..34571921hg38UCSC Ensembl
Outerchr1:34564944..34572291hg38UCSC Ensembl
Innerchr1:35030916..35037522hg19UCSC Ensembl
Outerchr1:35030545..35037892hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg387348
hg197348
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5816935, essv5824438, essv5464802, essv5733768, essv5700278, essv6091392, essv5498137, essv6338902, essv5425435, essv6557169, essv6533261, essv5719248, essv6271416, essv5450644, essv6476830, essv5565063, essv6290828, essv5898769, essv6514103, essv5751717, essv5703992, essv5962985, essv5568683, essv6105547, essv5770563, essv5523116, essv5869158, essv6136999, essv5905563, essv5559434, essv5436295, essv6477365, essv5439539, essv6437834, essv6436230, essv6381166, essv5990545, essv6183759
SamplesNA18592, NA18561, NA18599, NA18603, NA18545, NA18596, NA18606, NA18526, NA18563, NA18550, NA18597, NA18595, NA18635, NA18558, NA18547, NA18582, NA18571, NA18557, NA18638, NA18544, NA18637, NA18579, NA18572, NA18534, NA18548, NA18536, NA18576, NA18546, NA18608, NA18632, NA18542, NA18543, NA18559, NA18610, NA18636, NA18609, NA18549, NA18577
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671649
Frequency
Sample Size1151
Observed Gain0
Observed Loss38
Observed Complex0
Frequencyn/a


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