A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664966



Internal ID9931071
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:147314405..147315503hg38UCSC Ensembl
chr7:147011497..147012595hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg381099
hg191099
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1246e199
Supporting Variantsessv6174065, essv5916627, essv5981364, essv5677944, essv6320068, essv6472098, essv6575040, essv6337882, essv6305971, essv6410942, essv6093286, essv5856251, essv6347830, essv5855891, essv6303739, essv6543471, essv6567507, essv5402271, essv5898354, essv5665718, essv5747888, essv6516532, essv5550170, essv5896265, essv5737371, essv5738448, essv6267651, essv6579551, essv6405897, essv5877824, essv6179432, essv5633527, essv6447569, essv5432786, essv6210362, essv5669445, essv6337767, essv6224310, essv6518707, essv6228132
SamplesHG01462, HG01079, NA11920, NA20813, NA20512, NA12341, HG00272, NA20586, NA18942, NA12761, HG00139, HG00335, HG00262, HG01072, NA12828, NA20533, HG00323, NA19921, NA11993, HG01183, NA12489, HG00268, HG00320, NA19655, NA12249, NA12892, HG00246, NA12546, HG00375, HG00357, NA20582, HG00186, NA11892, HG01125, NA12006, NA07000, NA12154, HG01061, HG00553, NA12776
Known GenesCNTNAP2, MIR548I4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664966
Frequency
Sample Size1151
Observed Gain0
Observed Loss40
Observed Complex0
Frequencyn/a


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