A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2660583



Internal ID9926688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:137007214..137013770hg38UCSC Ensembl
Outerchr9:137006843..137014140hg38UCSC Ensembl
Innerchr9:139901666..139908222hg19UCSC Ensembl
Outerchr9:139901295..139908592hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg387298
hg197298
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6344409, essv5672452, essv5682103, essv5714357, essv5928281, essv5661014, essv6254615, essv6199849, essv6404810, essv5946904, essv6299056, essv6453818, essv6494576, essv6529112, essv5585136, essv6272672, essv6111756, essv5470083, essv6068019, essv6427425, essv5854866, essv5720279, essv5703582, essv5836689, essv5677524, essv6114014, essv5529273, essv5711360, essv6428344, essv6115591, essv5866979, essv5491355, essv5770553, essv6298653, essv5505430, essv5716292, essv6229165, essv5731877, essv5874752, essv6385976, essv6099571, essv5511057, essv6312155, essv6049547, essv6244933
SamplesNA18621, NA18565, NA18599, NA18596, NA18530, NA18606, NA18616, NA18602, NA18627, NA18597, NA18595, NA18635, NA18567, NA18618, NA18560, NA18617, NA18557, NA18539, NA18544, NA18613, NA18538, NA18637, NA18534, NA18630, NA18548, NA18626, NA18553, NA18536, NA18634, NA18541, NA18546, NA18632, NA18535, NA18543, NA18559, NA18628, NA18615, NA18610, NA18631, NA18636, NA18623, NA18612, NA18549, NA18622, NA18620
Known GenesABCA2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2660583
Frequency
Sample Size1151
Observed Gain0
Observed Loss45
Observed Complex0
Frequencyn/a


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