A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675944



Internal ID9942049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:82537567..82546323hg38UCSC Ensembl
OuterchrX:82537196..82546693hg38UCSC Ensembl
InnerchrX:81793016..81801772hg19UCSC Ensembl
OuterchrX:81792645..81802142hg19UCSC Ensembl
CytobandXq21.1
Allele length
AssemblyAllele length
hg389498
hg199498
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5935711, essv5958464, essv6381560, essv6142545, essv5432256, essv6030112, essv5447920, essv5783685, essv5405412, essv6351889, essv5733319, essv6227815, essv6114286, essv6347691, essv6545643, essv6131639, essv6484122, essv5486383, essv5568590, essv5424338, essv5863401, essv6422667, essv6103383, essv6504847, essv6019033, essv5858897, essv5727338, essv5557823, essv6082942, essv6592772, essv5988620, essv6339280, essv5859986, essv5846153, essv5401803, essv5567657, essv6010870, essv6331855, essv5509230, essv5514417, essv5749084, essv6040469, essv6247757
SamplesNA18621, NA18561, NA18603, NA18596, NA18530, NA18606, NA18633, NA18627, NA18563, NA18597, NA18635, NA18619, NA18558, NA18618, NA18611, NA18557, NA18638, NA18614, NA18544, NA18605, NA18613, NA18637, NA18572, NA18534, NA18630, NA18548, NA18626, NA18536, NA18546, NA18608, NA18632, NA18543, NA18559, NA18631, NA18636, NA18609, NA18624, NA18623, NA18612, NA18549, NA18622, NA18562, NA18620
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675944
Frequency
Sample Size1151
Observed Gain0
Observed Loss43
Observed Complex0
Frequencyn/a


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