A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3632025



Internal ID6672150
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:48307611..48308421hg38UCSC Ensembl
Innerchr13:48307617..48308415hg38UCSC Ensembl
Outerchr13:48307605..48308427hg38UCSC Ensembl
chr13:48881747..48882557hg19UCSC Ensembl
Innerchr13:48881753..48882551hg19UCSC Ensembl
Outerchr13:48881741..48882563hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg38811
hg19811
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14716572, essv14716553, essv14716600, essv14716559, essv14716564, essv14716586, essv14716591, essv14716561, essv14716594, essv14716578, essv14716570, essv14716563, essv14716573, essv14716569, essv14716554, essv14716576, essv14716598, essv14716557, essv14716546, essv14716593, essv14716599, essv14716552, essv14716574, essv14716585, essv14716581, essv14716547, essv14716566, essv14716580, essv14716560, essv14716583, essv14716551, essv14716579, essv14716555, essv14716584, essv14716545, essv14716568, essv14716575, essv14716595, essv14716556, essv14716548, essv14716562, essv14716549, essv14716550, essv14716567, essv14716577, essv14716592, essv14716590, essv14716589, essv14716588, essv14716596, essv14716587, essv14716565, essv14716558, essv14716597, essv14716571, essv14716582
SamplesHG00235, NA20761, HG01054, HG02277, NA20808, NA12750, HG01522, HG01140, HG01366, HG01702, NA19728, HG01488, NA20774, HG01459, NA20769, NA11918, NA12287, HG01067, HG01527, HG01771, NA19789, NA20755, HG00108, HG00183, NA20787, HG00145, HG01789, HG01515, NA20506, NA20767, HG01049, HG01092, HG01619, NA19774, HG02725, HG01679, HG00141, HG00126, NA20821, NA20773, HG00119, HG01678, HG01375, NA20792, NA19679, NA20516, HG01491, NA20582, HG01085, HG01631, NA20826, HG01251, HG00105, NA19661, HG01775, HG01747
Known GenesRB1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3632025
Frequency
Sample Size2504
Observed Gain0
Observed Loss56
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer